Open Access Research article

Association studies of the copy-number variable ß-defensin cluster on 8p23.1 in adenocarcinoma and chronic pancreatitis

Stefan Taudien1*, Gabor Gäbel2, Oliver Kuss3, Marco Groth1, Robert Grützmann3, Klaus Huse1, Alexander Kluttig3, Andreas Wolf4, Michael Nothnagel48, Philip Rosenstiel5, Karin Halina Greiser36, Karl Werdan7, Michael Krawczak4, Christian Pilarsky2 and Matthias Platzer1

Author Affiliations

1 Genome Analysis, Leibniz Institute for Age Research - Fritz Lipmann Institute, Beutenbergstr 11, D-07745, Jena, Germany

2 Department of Visceral, Thoracic and Vascular Surgery, University Hospital, Technical University of Dresden, Dresden, Germany

3 Institute for Medical Epidemiology, Biostatistics and Informatics, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany

4 Institute for Medical Informatics and Statistics, Christian Albrechts University Kiel, Kiel, Germany

5 Institute for Clinical Molecular Biology, Christian Albrechts University Kiel, Kiel, Germany

6 German Cancer Research Centre, Division of Cancer Epidemiology, Heidelberg, Germany

7 Department of Medicine III, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany

8 Cologne Center for Genomics, University of Cologne, Cologne, Germany

For all author emails, please log on.

BMC Research Notes 2012, 5:629  doi:10.1186/1756-0500-5-629

Published: 13 November 2012



Human ß-defensins are a family of antimicrobial peptides located at the mucosal surface. Both sequence multi-site variations (MSV) and copy-number variants (CNV) of the defensin-encoding genes are associated with increased risk for various diseases, including cancer and inflammatory conditions such as psoriasis and acute pancreatitis. In a case–control study, we investigated the association between MSV in DEFB104 as well as defensin gene (DEF) cluster copy number (CN), and pancreatic ductal adenocarcinoma (PDAC) and chronic pancreatitis (CP).


Two groups of PDAC (N=70) and CP (N=60) patients were compared to matched healthy control groups CARLA1 (N=232) and CARLA2 (N=160), respectively. Four DEFB104 MSV were haplotyped by PCR, cloning and sequencing. DEF cluster CN was determined by multiplex ligation-dependent probe amplification.

Neither the PDAC nor the CP cohorts show significant differences in the DEFB104 haplotype distribution compared to the respective control groups CARLA1 and CARLA2, respectively.

The diploid DEF cluster CN exhibit a significantly different distribution between PDAC and CARLA1 (Fisher’s exact test P=0.027), but not between CP and CARLA2 (P=0.867).


Different DEF cluster b CN distribution between PDAC patients and healthy controls indicate a potential protective effect of higher CNs against the disease.

Defensins; Single nucleotide variants; Copy number variation; Chronic pancreatitis; Pancreatic ductal adenocarcinoma